36 answers

Pregnant and Given 1/9 Chance Baby Has down Syndrome

Hi Moms. I'm 14-weeks pregnant and had a first trimester screening done for birth defects. Was called in to meet with a genetic counselor who informed us that there is a 1/9 chance our baby has Down Syndrome (DS). I am a pediatric occupational therapist so know a bit of what to expect should we have a child with DS. Our counselor has been very sweet and is trying to sound very optimistic with us. Of course I am concerned, but because terminating the pregnancy is not an option for us and we do not want to place added risk to the baby, we will not be having an amniocentesis. (I understand they are considered very safe and definitely don't judge others for having them). Perhaps I am scared to go to that place of worry and fear, but I am feeling uncharacteristically calm and at peace. I do wonder though if the genetic counselor is sugar coating things a bit in attempts to comfort and ease us. Because I have been in a similar profession, I know that heart all too well. However, I do want to be realistic and if my chances are higher than what she paints it to be, I want to prepare myself so that when I meet this baby, that time is not tinged with disappointment, sadness, etc should he/she turn out to have DS.

Here are a few of my numbers:
Nuchal traslucency measurement: 3.2mm
hCG: 1.56 (don't know the units)
PAPP-A: 0.34 (don't know the units)

These 3 numbers combined are correlated with a DS diagnosis. Any other moms out there have an increased NT measurement, high hCG and low PAPP-A have stories to share? We will be having another blood test done in a few weeks to determine whether the chance of having a baby with DS goes up or down. Based on that result, we may be offered a level 2 ultrasound (which we would do) and amnio again (which we wouldn't do). Thanks in advance for your time and thoughts. :)

1 mom found this helpful

What can I do next?

So What Happened?™

Thank you moms (can I call you friends?) for your support and prayers. They mean a lot. I actually came across Baby Nella/Kelle Hampton's birth story yesterday while surfing Babycenter and bawled and bawled while reading this touching story. I shared it with my husband and sharing in this mom's pain/joy has been therapeutic and reassuring for both of us. I stalked Kelle's blog in between my 2-year-old's naps all day yesterday. What a beautiful and perfect family. I do agree with many of you that no matter what the outcome, we will come to love this child the same. I know this will take tears, support and encouragement... whether the baby has an extra chromosome or not. That's how it's been with my typically developing 2-year-old of a wild man. :)

I know this is not really an "update" per se. Just wanted to say thank you to everybody. Will update with more concrete news following our upcoming blood test in a few weeks. Huge blessings to you all. :)

Featured Answers

I don't know what the numbers mean but I just want to offer my support. I work with special needs children and the down syndrome children are very loving and take a piece of my heart daily. There are so many school nowadays that deal with these children and can bring out the very best in each one. Most of them are very high functioning. My hugs and kisses to you both. A positive attitude while you are pregnant is so important and a special needs child can make you grow in ways that you never knew possible.

7 moms found this helpful

More Answers

WELCOME TO HOLLAND

by
Emily Perl Kingsley.
I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......
When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.
After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."
"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."
But there's been a change in the flight plan. They've landed in Holland and there you must stay.
The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.
So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.
It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.
But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."
And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss.
But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland.

33 moms found this helpful

Well you have a 1 in 9 chance of having a child that will touch you like you never thought possible then.

No hi tech experience here or "numbers" advice.

I was 39 when I delivered my son and I declined ANY and ALL tests, etc. because like you, I knew I wouldn't abort. I also know that God doesn't make mistakes. With children or with choosing their parents :) All the best!

10 moms found this helpful

Reading some other responses, I want to say, gently, that it doesn't really help when someone else says "I had bad tests too but my baby came out fine." Some babies do not come out fine, there is no way of knowing until we actually KNOW which statistic our family will fall into. Reassuring a worrying mother that your baby was born perfectly healthy is akin to telling a woman whose child has just died that it's ok, because it was meant to be. Even if it seems comforting, it simply isn't.

Now, my personal advice as a special needs mom. If your child did end up having special needs, it would be good to know as early as possible. Not because you have to terminate or because it would change the outcome, but it would give you time to grieve the child you lost - the healthy one - and come to terms with being that special needs momma. It is absolutely heartbreaking and life changing when your supposed-to-be-typical child is not typical. I still struggle some days, 18 months after my son was born and suffered a birth injury that left him with cerebral palsy, understanding that it happened and coping with why and how and what-could-I-have-done-differently. My heart still breaks to think about the difficult future he can have, the difficult present he is going through, and I don't think that heartbreak will ever stop. I found out too late that there were measures that could have been done at birth to lower his chances of disability. It hurts, as his momma I want to do everything in the world to help him and make his life easier, and if I had had the time to prepare prior to his birth, I could have been way ahead of the game, so to speak.

I would encourage you to get further testing done to know for certain. Amnios truly do have a very low risk - I had one, it wasn't painful and nothing bad came of it. If the answer is negative, you can put this stressful worrisome burden out of your mind for the rest of your life and enjoy your typical pregnancy. If the answer is positive, you can grieve (as you will need to, I promise you) and educate yourself on how to be the BEST mother you can be to your baby, get insurance referrals and therapy lined up for whatever special care he will require, and you can start to move past those difficult things, so that when your baby is born you can enjoy every moment and know that you did every thing you could to ready yourself to be the best mom possible.

Whatever you do decide, I wish you encouragement and strength and a strong heart. Joining the ranks of special needs mothers introduces you to a very exclusive club that lasts a lifetime and will give you rewards you've never even dreamed of.... hugs to you.

10 moms found this helpful

No advice just sending prayers and love your way, thank you for choosing life.

8 moms found this helpful

My little girl was DS. She passed away from complications in the pregnancy. It was a problem on my side not hers. I would love to have raised her. I want to say congratulations on your pregnancy! You are already a wonderful Momma and this little one is going to be a blessing what ever the case may be. How wonderful to hear a mother say that terminating a pregnancy is not an option. It makes me cringe each time I hear it because I would have given the world to have been able to bring our little one home. I will pray for the best!

8 moms found this helpful

You brought tears to my eyes. I think you are calm because you know that
no matter what your beautiful little baby will be so very special with or without DS. I worked with Downs children, as I am sure you did, and found
them to be wonderful, loving, happy children. Some have medical issues
some do not. God has given you a gift and you will embrace that gift. If your baby does have DS try to find the poem I think it is called "Holland".
It tells about a couple who were planning a trip to Paris. I mean they
spent months reading and researching Paris and were so ready to go.
However, on their way to Paris, they were detoured to Holland. Initially they
were upset about this, but once they got there they realized that Holland
had such beautiful things. They loved everything about it. The flowers the
weather the people. We all have a plan but sometimes it does not always
go the way we want it, but in the end we are happy. May God Bless you
and your little one. Hugs to you.

7 moms found this helpful

I don't know what the numbers mean but I just want to offer my support. I work with special needs children and the down syndrome children are very loving and take a piece of my heart daily. There are so many school nowadays that deal with these children and can bring out the very best in each one. Most of them are very high functioning. My hugs and kisses to you both. A positive attitude while you are pregnant is so important and a special needs child can make you grow in ways that you never knew possible.

7 moms found this helpful

Oh god, hugs!! This is why I wouldn't let my OB do anything that would tell us genetic issues. I knew I could never terminate my pregnancy and didn't want to spend my pregnancy under that kind of stress.

I also wish I knew what all those numbers meant. Sorry.

I don't know if Autism spectrum is equal to DS but I can tell you I never thought I could handle a special needs kid. I can, you can, funny thing about kids you dig down inside and you find what you need to move heaven and earth for them. I wish I could offer you more than support but that is all I have.

6 moms found this helpful

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